Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.

Autor: Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C. D. M., Jansen, F. E., de Wit, M. C. Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M. G., van Eeghen, A. M.

Publikováno v: BMC Psychiatry; 1/4/2024, Vol. 24 Issue 1, p1-14, 14p

Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials" [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233].

Autor: Hollander BD; Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, the Netherlands., Rothuizen-Lindenschot M; HAN University of Applied Sciences, Nijmegen, the Netherlands., Geertjens L; Amsterdam UMC Location Vrije Universiteit Amsterdam, Child and Adolescent Psychiatry and Psychosocial Care, Emma Children's Hospital, Boelelaan, 1117, Amsterdam, the Netherlands.; Amsterdam UMC Location University of Amsterdam, N=You Neurodevelopmental Precision Center, Amsterdam Neuroscience, Amsterdam Reproduction and Development, Meibergdreef 9, Amsterdam, the Netherlands., Vaz FM; United for Metabolic Diseases, Amsterdam, the Netherlands.; Amsterdam UMC Location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, the Netherlands.; Amsterdam UMC Location University of Amsterdam, Department of Core Facility Metabolomics, Meibergdreef 9, Amsterdam, the Netherlands., Brands MM; Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, the Netherlands., Le HL; Amsterdam UMC Location University of Amsterdam, Department of Hospital Pharmacy, Meibergdreef 9, Amsterdam, the Netherlands.; Platform Medicine for Society, Amsterdam, the Netherlands., van Eeghen AM; Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; Advisium, 's Heerlen Loo Zorggroep, Amersfoort, the Netherlands., van de Ven PM; University Medical Center Utrecht, Department of Data Science and Biostatistics, Julius Center for Health Sciences and Primary Care, Heidelberglaan 100, Utrecht, the Netherlands., Cornel MC; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; Amsterdam UMC Location Vrije Universiteit van Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development, Meibergdreef 9, Amsterdam, the Netherlands., Jacobs BAW; Platform Medicine for Society, Amsterdam, the Netherlands.; Antoni van Leeuwenhoek, Department of Pharmacy and Clinical Pharmacology, Plesmanlaan 121, Amsterdam, the Netherlands., Bruining H; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; Amsterdam UMC Location Vrije Universiteit Amsterdam, Child and Adolescent Psychiatry and Psychosocial Care, Emma Children's Hospital, Boelelaan, 1117, Amsterdam, the Netherlands.; Amsterdam UMC Location University of Amsterdam, N=You Neurodevelopmental Precision Center, Amsterdam Neuroscience, Amsterdam Reproduction and Development, Meibergdreef 9, Amsterdam, the Netherlands., van Karnebeek CD; Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, the Netherlands.; Amsterdam UMC Location Vrije Universiteit van Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development, Meibergdreef 9, Amsterdam, the Netherlands.

Publikováno v: Contemporary clinical trials communications [Contemp Clin Trials Commun] 2024 Feb 01; Vol. 38, pp. 101264. Date of Electronic Publication: 2024 Feb 01 (Print Publication: 2024).

Rollen, taken en verantwoordelijkheden van praktijkopleider, werkbegeleider en supervisor in de ggz

Autor: Colijn, S., Verbraak, M.J.P.M., Geertjens, L., Beunderman, R., Maas, F. van der

Publikováno v: Beunderman, R.; Colijn, S.; Geertjens, L. (ed.), Theorie en praktijk van supervisie in de ggz, pp. 21-30
Beunderman, R.; Colijn, S.; Geertjens, L. (ed.), Theorie en praktijk van supervisie in de ggz, 21-30. Utrecht : De Tijdstroom
STARTPAGE=21;ENDPAGE=30;TITLE=Beunderman, R.; Colijn, S.; Geertjens, L. (ed.), Theorie en praktijk van supervisie in de ggz

Item does not contain fulltext

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a2faec57d850dd36520f57dc6acf283d
https://hdl.handle.net/2066/166427

Assessing the landscape of STXBP1-related disorders in 534 individuals.

Autor: Xian J; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Neuroscience Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Parthasarathy S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Biology, The College of New Jersey, Ewing Township, NJ 08618, USA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Balagura G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genoa, Italy., Fitch E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Helbig K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Gan J; Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China., Ganesan S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Kaufman MC; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Ellis CA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Lewis-Smith D; Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne NE2 4HH, UK.; Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK., Galer P; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Center for Neuroengineering and Therapeutics, University of Pennsylvania, Philadelphia, PA 19104, USA., Cunningham K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., O'Brien M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Lewis Katz School of Medicine, Temple University, Philadelphia, PA 19140, USA., Cosico M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Baker K; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK., Darling A; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Veiga de Goes F; Department of Pediatrics and Pediatric Neurology Laboratory, Instituto Fernandes Figueira, Rio de Janeiro 22250-020, Brazil., El Achkar CM; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Doering JH; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Furia F; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., García-Cazorla Á; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Gardella E; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., Geertjens L; Department of Child and Adolescent Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Klein C; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Kolesnik-Taylor A; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK., Lammertse H; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Lee J; Department of Pediatrics, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, Republic of Korea., Mackie A; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Misra-Isrie M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Olson H; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sexton E; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sheidley B; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Smith L; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sotero L; Department of Pediatrics and Pediatric Neurology Laboratory, Instituto Fernandes Figueira, Rio de Janeiro 22250-020, Brazil., Stamberger H; Division of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium., Syrbe S; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Thalwitzer KM; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., van Berkel A; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., van Haelst M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Yuskaitis C; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Weckhuysen S; Division of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Prosser B; Department of Physiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Son Rigby C; STXBP1 Foundation, Apex, NC 27539, USA., Demarest S; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Pierce S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zhang Y; Department of Pediatrics, Beijing University First Hospital, Beijing, China., Møller RS; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., Bruining H; Department of Child and Adolescent Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Poduri A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Verhage M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genoa, Italy., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2022 Jun 03; Vol. 145 (5), pp. 1668-1683.